Abstract：
BACKGROUND:Neuron-derived orphan receptor (Nor) 1, nuclear receptor (Nur) 77, and nuclear receptor-related protein (Nurr) 1 constitute the NR4A family of orphan nuclear receptors which were recently found to modulate hepatic glucose production, insulin signalling in adipocytes, and oxidative metabolism in skeletal muscle. In this study, we assessed whether common genetic variation within the NR4A3 locus, encoding Nor-1, contributes to the development of prediabetic phenotypes, such as glucose intolerance, insulin resistance, or beta-cell dysfunction.
METHODS:We genotyped 1495 non-diabetic subjects from Southern Germany for the five tagging single nucleotide polymorphisms (SNPs) rs7047636, rs1526267, rs2416879, rs12686676, and rs10819699 (minor allele frequencies >or= 0.05) covering 100% of genetic variation within the NR4A3 locus (with D' = 1.0, r2 >or= 0.9) and assessed their association with metabolic data derived from the fasting state, an oral glucose tolerance test (OGTT), and a hyperinsulinemic-euglycemic clamp (subgroup, N = 506). SNPs that revealed consistent associations with prediabetic phenotypes were subsequently genotyped in a second cohort (METSIM Study; Finland; N = 5265) for replication.
RESULTS:All five SNPs were in Hardy-Weinberg equilibrium (p >or= 0.7, all). The minor alleles of three SNPs, i.e., rs1526267, rs12686676, and rs10819699, consistently tended to associate with higher insulin release as derived from plasma insulin at 30 min(OGTT), AUCC C-peptide-to-AUC Gluc ratio and the AUC Ins30-to-AUC Gluc30 ratio with rs12686676 reaching the level of significance (p journal_name journal_title authors doi subject pub_date pages issn pii journal_volume pub_type
abstract：BACKGROUND:Hypertrophic Cardiomyopathy (HCM) is a complex myocardial disorder with a recognized genetic heterogeneity. The elevated number of genes and mutations involved in HCM limits a gene-based diagnosis that should be considered of most importance for basic research and clinical medicine. METHODOLOGY:In this repo...
journal_title：BMC medical genetics
pub_type： 杂志文章
doi：10.1186/1471-2350-13-17
更新日期：2012-03-19 00:00:00
abstract：BACKGROUND:Sequence variants in genes functioning in folate-mediated one-carbon metabolism are hypothesized to lead to changes in levels of homocysteine and DNA methylation, which, in turn, are associated with risk of cardiovascular disease. METHODS:330 SNPs in 52 genes were studied in relation to plasma homocysteine ...
journal_title：BMC medical genetics
pub_type： 杂志文章
doi：10.1186/1471-2350-12-150
更新日期：2011-11-21 00:00:00
abstract：BACKGROUND:Left ventricular (LV) mass and wall thickness are closely associated with measures of body size and blood pressure and also correlated with systolic and diastolic function, suggesting a contribution of common physiologic mechanisms, including pleiotropic genes, to their covariation. METHODS:Doppler echocard...
journal_title：BMC medical genetics
pub_type： 杂志文章
doi：10.1186/1471-2350-10-40
更新日期：2009-05-09 00:00:00
abstract：BACKGROUND:Glucocorticoids have an important role in early growth and development. Glucocorticoid receptor gene polymorphisms have been identified that contribute to the variability in glucocorticoid sensitivity. We examined whether these glucocorticoid receptor gene polymorphisms are associated with growth in fetal an...
journal_title：BMC medical genetics
pub_type： 杂志文章
doi：10.1186/1471-2350-11-39
更新日期：2010-03-03 00:00:00
abstract：BACKGROUND:Epidemiological studies have suggested that variants on adiponectin (ADIPOQ) and its receptor ADIPOR1 (adiponectin receptor 1) are associated with colorectal cancer (CRC) risk; however, the results were inconclusive. The aim of the study was to evaluate the associations between the variants on ADIPOQ and ADI...
journal_title：BMC medical genetics
pub_type： 杂志文章,meta分析
doi：10.1186/s12881-014-0137-y
更新日期：2014-12-17 00:00:00
abstract：BACKGROUND:Emerging evidence has shown that miRNAs are involved in human carcinogenesis as tumor suppressors or oncogenes. Single nucleotide polymorphisms (SNPs) located in pre-miRNAs may affect the processing and therefore, influence the expression of mature miRNAs. Previous studies generated conflicting results when ...
journal_title：BMC medical genetics
pub_type： 杂志文章
doi：10.1186/1471-2350-13-119
更新日期：2012-12-10 00:00:00
abstract：BACKGROUND:A number of single nucleotide polymorphisms (SNPs) have been associated with broadband ultrasound attenuation (BUA) and speed of sound (SOS) as measured by quantitative ultrasound (QUS) at the calcaneus in the Framingham 100K genome-wide association study (GWAS) but have not been validated in independent stu...
journal_title：BMC medical genetics
pub_type： 杂志文章
doi：10.1186/1471-2350-12-19
更新日期：2011-01-28 00:00:00
abstract：BACKGROUND:We explored the association of leucine-rich repeats and calponin homology domain containing 1 (LRCH1) gene polymorphisms with genetic susceptibility to delayed encephalopathy after acute carbon monoxide poisoning (DEACMP), which might provide a theoretical basis for the pathogenesis, diagnosis, and prognosis...
journal_title：BMC medical genetics
pub_type： 杂志文章
doi：10.1186/s12881-019-0931-7
更新日期：2019-12-16 00:00:00
abstract：BACKGROUND:Visceral obesity and metabolic syndrome are commonly associated with non-alcoholic fatty liver disease (NAFLD). The progression of steatosis to NASH depends on a number of metabolic and patient-related factors. The mechanisms of genetic predisposition towards the development of NASH and related fibrosis rema...
journal_title：BMC medical genetics
pub_type： 杂志文章
doi：10.1186/s12881-016-0324-0
更新日期：2016-09-05 00:00:00
abstract：BACKGROUND:Multiple endocrine neoplasia type 1 (MEN1) syndrome is usually accompanied by endocrine tumors, but non-endocrine tumors can occur as well. However, the coexistence of MEN1 syndrome and malignant tumor such as low-grade fibromyxoid sarcoma has not been described in the literature. Moreover, the MEN1 gene mut...
journal_title：BMC medical genetics
pub_type： 杂志文章
doi：10.1186/s12881-020-01129-4
更新日期：2020-09-29 00:00:00
abstract：BACKGROUND:Observational studies and randomized trials have suggested that estrogens and/or progesterone may lower the risk for colorectal cancer. Inherited variation in the sex-hormone genes may be one mechanism by which sex hormones affect colorectal cancer, although data are limited. METHOD:We conducted a comprehen...
journal_title：BMC medical genetics
pub_type： 杂志文章
doi：10.1186/1471-2350-12-78
更新日期：2011-05-31 00:00:00
abstract：BACKGROUND:Obesity is related to multiple cardiovascular disease (CVD) risk factors as well as CVD and has a strong familial component. We tested for association between SNPs on the Affymetrix 100K SNP GeneChip and measures of adiposity in the Framingham Heart Study. METHODS:A total of 1341 Framingham Heart Study part...
journal_title：BMC medical genetics
pub_type： 杂志文章
doi：10.1186/1471-2350-8-S1-S18
更新日期：2007-09-19 00:00:00
abstract：BACKGROUND:Risk gene variants for celiac disease, identified in genome-wide linkage and association studies, might influence molecular pathways important for disease development. The aim was to examine expression levels of potential risk genes close to these variants in the small intestine and peripheral blood and also...
journal_title：BMC medical genetics
pub_type： 杂志文章
doi：10.1186/s12881-015-0190-1
更新日期：2015-06-30 00:00:00
abstract：BACKGROUND:Mutations in GATA6 are the most frequent cause of pancreatic agenesis. Most cases present with neonatal diabetes mellitus. CASE PRESENTATION:The case was a female born after an uncomplicated pregnancy and delivery in a non-consanguineous family (3.59 kg, 70th percentile). Severe cardiac malformations were d...
journal_title：BMC medical genetics
pub_type： 杂志文章
doi：10.1186/s12881-020-01012-2
更新日期：2020-04-03 00:00:00
abstract：BACKGROUND:The bladder exstrophy-epispadias complex (BEEC) represents the severe end of the congenital uro-rectal malformation spectrum. Initial studies have implicated rare copy number variations (CNVs), including recurrent duplications of chromosomal region 22q11.21, in BEEC etiology. METHODS:To detect further CNVs,...
journal_title：BMC medical genetics
pub_type： 杂志文章
doi：10.1186/s12881-016-0299-x
更新日期：2016-04-30 00:00:00
abstract：BACKGROUND:Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder characterized by broad thumbs and halluces. RSTS is caused by mutations in CREBBP and in EP300 genes in 50-60% and 8%, respectively. Up to now, 76 RSTS-EP300 patients have been described. We present the clinical and mol...
journal_title：BMC medical genetics
pub_type： 杂志文章
doi：10.1186/s12881-018-0548-2
更新日期：2018-03-05 00:00:00
abstract：BACKGROUND:Urolithiasis is a worldwide urological problem with significant contribution of genetic factors. Pakistan, which resides within the Afro-Asian stone belt, has a high reported prevalence (12%) of urolithiasis. Osteopontin (SPP1) is a urinary macromolecule with a suggested critical role in modulating renal sto...
journal_title：BMC medical genetics
pub_type： 杂志文章,meta分析
doi：10.1186/s12881-020-01101-2
更新日期：2020-08-25 00:00:00
abstract：BACKGROUND:Long QT syndrome (LQTS) is an autosomal dominant condition predisposing to sudden death from malignant arrhythmia. Genetic testing identifies many missense single nucleotide variants of uncertain pathogenicity. Establishing genetic pathogenicity is an essential prerequisite to family cascade screening. Many ...
journal_title：BMC medical genetics
pub_type： 杂志文章
doi：10.1186/s12881-015-0176-z
更新日期：2015-05-13 00:00:00
abstract：BACKGROUND:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is increasingly recognized as an inherited arterial disease leading to a step-wise decline and eventually to dementia. CADASIL is caused by mutations in NOTCH3 epidermal growth factor-like repeat that maps to...
journal_title：BMC medical genetics
pub_type： 杂志文章
doi：10.1186/1471-2350-8-67
更新日期：2007-11-09 00:00:00
abstract：BACKGROUND:Fabry disease (FD, OMIM 301500) is an X-linked inborn error of glycosphingolipid metabolism due to the deficient activity of alpha-galactosidase A, a lysosomal enzyme. While the progressive systemic deposition of uncleaved glycosphingolipids throughout the body is known to have protean clinical manifestation...
journal_title：BMC medical genetics
pub_type： 杂志文章
doi：10.1186/1471-2350-3-10
更新日期：2002-10-11 00:00:00
abstract：BACKGROUND:The SDHD gene encodes a subunit of the mitochondrial tricarboxylic acid cycle enzyme and tumor suppressor, succinate dehydrogenase. Mutations in this gene show a remarkable pattern of parent-of-origin related tumorigenesis, with almost all SDHD-related cases of head and neck paragangliomas and pheochromocyto...
journal_title：BMC medical genetics
pub_type： 杂志文章
doi：10.1186/s12881-014-0111-8
更新日期：2014-10-10 00:00:00
abstract：BACKGROUND:Thalassemia is the most common inherited disease in the world, involving α- or β-globin in red blood cells. Thalassemia cases rank fifth in the list of national catastrophic diseases in Indonesia; however, nationwide screening for thalassemia carriers is not yet mandatory. This study aimed to assess whether ...
journal_title：BMC medical genetics
pub_type： 杂志文章
doi：10.1186/s12881-019-0868-x
更新日期：2019-08-09 00:00:00
abstract：BACKGROUND:The mitochondrial voltage-dependent anion channel (VDAC) is increasingly implicated in the control of apoptosis. We have studied the effects the mitochondrial DNA (mtDNA) tRNAIle mutation on VDAC expression, localization, and apoptosis. METHODS:Lymphoblastoid cell lines were derived from 3 symptomatic and 1...
journal_title：BMC medical genetics
pub_type： 杂志文章
doi：10.1186/1471-2350-10-114
更新日期：2009-11-09 00:00:00
abstract：BACKGROUND:Preeclampsia can lead to adverse maternal and perinatal outcomes. There are few studies on the association of preeclampsia with thrombophilia in Africa including Sudan. METHODS:A case -controls study was conducted at Saad Abualila Hospital in Khartoum, Sudan during the period of February through November 20...
journal_title：BMC medical genetics
pub_type： 杂志文章
doi：10.1186/s12881-018-0737-z
更新日期：2019-01-05 00:00:00
abstract：BACKGROUND:Preeclampsia is a frequent complication of pregnancy and a leading cause of perinatal mortality. Both genetic and environmental risk factors have been identified. Lipid metabolism, particularly cholesterol metabolism, is associated with this disease. Liver X receptors alpha (NR1H3, also known as LXRalpha) an...
journal_title：BMC medical genetics
pub_type： 杂志文章
doi：10.1186/1471-2350-12-145
更新日期：2011-10-26 00:00:00
abstract：BACKGROUND:This study was aimed to investigate the regulatory role of microRNA-210 (miRNA-210) on the progression of liver cancer and Hepatitis B virus (HBV)-associated liver cancer. METHODS:The expression of miRNA-210 was detected in liver tissues of HBV-associated cirrhosis and liver cancer, and in HepG2 and HepG2.2...
journal_title：BMC medical genetics
pub_type： 杂志文章
doi：10.1186/s12881-020-0974-9
更新日期：2020-03-06 00:00:00
abstract：BACKGROUND:The number of genome-wide association studies (GWAS) is growing rapidly leading to the discovery and replication of many new disease loci. Combining results from multiple GWAS datasets may potentially strengthen previous conclusions and suggest new disease loci, pathways or pleiotropic genes. However, no dat...
journal_title：BMC medical genetics
pub_type： 杂志文章
doi：10.1186/1471-2350-10-6
更新日期：2009-01-22 00:00:00
abstract：BACKGROUND:Hyaline fibromatosis syndrome (HFS) is a rare heritable multi-systemic disorder with significant dermatologic manifestations. It is caused by mutations in ANTXR2, which encodes a transmembrane receptor involved in collagen VI regulation in the extracellular matrix. Over 40 mutations in the ANTXR2 gene have b...
journal_title：BMC medical genetics
pub_type： 杂志文章
doi：10.1186/s12881-018-0581-1
更新日期：2018-05-25 00:00:00
abstract：BACKGROUND:About 20 % of hereditary breast cancers are caused by mutations in BRCA1 and BRCA2 genes. Since BRCA1 and BRCA2 mutations may be spread throughout the gene, genetic testing is usually performed by direct sequencing of entire coding regions. In some populations, especially if relatively isolated, a few number...
journal_title：BMC medical genetics
pub_type： 杂志文章
doi：10.1186/s12881-016-0274-6
更新日期：2016-02-06 00:00:00
abstract：BACKGROUND:Human prion diseases are relentlessly progressive neurodegenerative disorders which include sporadic Creutzfeldt-Jakob disease (sCJD) and variant CJD (vCJD). Aside from variants of the prion protein gene (PRNP) replicated association at genome-wide levels of significance has proven elusive. A recent associat...
journal_title：BMC medical genetics
pub_type： 杂志文章
doi：10.1186/s12881-016-0278-2
更新日期：2016-04-07 00:00:00
